Childhood dementia is more prevalent than you may assume, but receiving a diagnosis can take years: Why?

By Stephanie Srakocic | Fact-checked by Davi Sherman
Published December 21, 2023

Key Takeaways

  • Research shows that it takes an average of 2 to 6 years to receive a childhood dementia diagnosis.

  • The conditions that fall within the childhood dementia category are rare, but as a whole, childhood dementia is about as common as spina bifida.

  • Currently available treatments, as well as current clinical trials, are focused on pre-symptomatic children or children with very mild symptoms, making early diagnosis crucial.

Despite the recent growing public awareness of the condition from family influencers online, childhood dementia remains widely misunderstood.

Childhood dementia is an umbrella term that covers over 100 genetic conditions. Individually, these conditions are rare; combined, they are much more common. About 1 in every 2,900 babies in the United States is born with a condition that causes childhood dementia. In comparison, about 1 in every 2,758  babies in the US is born with spina bifida each year. Additionally, an estimated 1,077 deaths in people with childhood dementia occur each year in the US. Childhood cancers cause an estimated 1,050 deaths.[][][] 

The types of childhood dementia

The umbrella term ‘childhood dementia’ isn’t always used to talk about the neurodegenerative conditions that make up this grouping. It’s common for these conditions to be discussed on their own. There are more than 100 genetic conditions that are considered childhood dementia. Some of these conditions are rare but relatively well known. As a category, childhood dementia includes:[]

  • Juvenile Huntington's disease

  • Juvenile Parkinson’s disease

  • Progressive encephalopathy

  • Menkes disease

  • Gaucher disease (types 2 and 3)

  • Sanfilippo syndrome

  • Tay Sachs disease

Childhood dementia also includes much rarer and less-known conditions, such as L-2-hydroxyglutaric aciduria, which has been reported in fewer than 150 individuals globally. Pediatricians and other physicians looking for more information on the conditions that fall into this grouping can try searching the Childhood Dementia Initiative’s knowledge database for clinicians. This searchable and frequently updated resource has information on all of the conditions in the childhood dementia category, including age of onset, diagnostic criteria, genetic causes, prevalence, and symptoms.[] 

Unfortunately, limited awareness of childhood dementia often extends to physicians and other healthcare providers. It’s common for families to go years with an incorrect diagnosis—or no diagnosis at all—for their child. Research has found that the median time for receiving a childhood dementia diagnosis is between two and six years. In July 2023, the Childhood Dementia Working Group published an article discussing the burden and under-recognition of childhood dementia. Discussing the long timeframe for diagnosis, the authors wrote:[]

This delay is partly due to the non-specific nature of presenting symptoms that could indicate more common conditions such as autism. Still, it is likely that a lack of awareness of this group of conditions and clear diagnostic and referral pathways are contributing factors.

Childhood dementia is believed to have an average age of onset around two years of age. However, because it’s so common for diagnosis to be delayed, many children with the condition do not begin available treatments and interventions until much later. Additionally, long delays in diagnosis may mean that the average age of onset is inaccurate.[] 

Unlike most other conditions that can affect childhood development and learning milestones, childhood dementia is progressive. Children with childhood dementia experience a decline in brain function. This progression can take months, years, or decades, depending on the specific genetic condition and the individual, but half of children with childhood dementia die before their tenth birthday. The average age of death is 16.3 years old among those with currently non-treatable childhood dementia, with a range from infancy to 52.4 years old.[]

As the condition progresses, children will present with symptoms that increase in severity. In addition to memory loss and difficulties with learning, these typically include:[]

  • Confusion

  • Difficulty concentrating

  • Difficulty communicating

  • Disturbed sleep

  • Personality changes 

  • Behavioral symptoms such as hyperactivity 

  • Anxiety

  • Loss of ability to write

  • Loss of ability to read

  • Loss of ability to talk

  • Loss of ability to do physical activities and tasks

Treatments and interventions are possible for some types of childhood dementia. All currently available treatments are meant to be early interventions. The treatments are most successful when undergone before the onset of irreversible neurological damage. Additionally, current research and testing is focused on early detection and treatment. As a result, many clinical trials are limited to pre-symptomatic children with very minimal symptoms.[] 

This makes early and appropriate diagnosis even more crucial. Researchers with the Childhood Dementia Working Group hope that increased awareness of childhood dementia, along with new technology, such as whole genome sequencing and testing, will lead to faster and earlier diagnosis for children. For physicians, awareness of childhood dementia and of what sets it apart from other neurodevelopmental conditions could be key to spotting the condition sooner.[] 

As the Childhood Dementia Working Group stated:[]

[T]he hallmark of childhood dementia is enduring and progressive loss of previously acquired developmental skills, in contrast to static or transient intellectual loss. Moreover, childhood dementia can be distinguished from conditions such as intellectual disability, which reflect relative loss of developmental trajectory without regression.

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